A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

• Main Authors: Ulhaq, Zulvikar Syambani, Soraya, Gita Vita, Istifiani, Lola Ayu, Pamungkas, Syafrizal Aji, Arisanti, Ditya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur, Ayudianti, Prida, Kusuma, Muhammad A’raaf Sirojan, Shodry, Syifaus, Herawangsa, Sarah, Nurputra, Dian Kesumapramudya, Idaiani, Sri, Tse, William Ka Fai
• 格式: Article PeerReviewed
• 語言: English
• 出版: American Cleft Palate Craniofacial Association 2022
• 主題: Clinical Sciences
• 在線閱讀: https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf; https://repository.ugm.ac.id/278889/; https://journals.sagepub.com/home/cpc; https://doi.org/0.1177/10556656221136177
• 機構: Universitas Gadjah Mada

Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). Yet, the association between the severity of clinical findings with variants within the EFT...